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| Intellectual disability - microarray and sequencing v5.45 | PDHB | Arina Puzriakova Phenotypes for gene: PDHB were changed from Pyruvate dehydrogenase E1-beta deficiency, MIM#614111 to Pyruvate dehydrogenase E1-beta deficiency, OMIM:614111 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.1511 | PDHB | Arina Puzriakova Tag for-review was removed from gene: PDHB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.1510 | PDHB | Sarah Leigh commented on gene: PDHB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.1509 | PDHB |
Arina Puzriakova Source Expert Review Green was added to PDHB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Intellectual disability - microarray and sequencing v3.246 | PDHB | Arina Puzriakova Publications for gene: PDHB were set to 15138885; 26014431 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.245 | PDHB | Arina Puzriakova Classified gene: PDHB as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.245 | PDHB | Arina Puzriakova Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review - moderate ID/DD reported in multiple surviving patients. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.245 | PDHB | Arina Puzriakova Gene: pdhb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.244 | PDHB | Arina Puzriakova Tag for-review tag was added to gene: PDHB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.0 | PDHB |
Zornitza Stark gene: PDHB was added gene: PDHB was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: PDHB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDHB were set to 15138885; 26014431 Phenotypes for gene: PDHB were set to Pyruvate dehydrogenase E1-beta deficiency, MIM#614111 Review for gene: PDHB was set to GREEN gene: PDHB was marked as current diagnostic Added comment: DD/ID is a feature of this metabolic disorder. Sources: Expert list |
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